Delayed diagnosis of proopiomelanocortin (POMC) deficiency with type 1 diabetes in a 9-year-old girl and her infant sibling

ÖZSU CAVGA E., Bahm A.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.30, sa.10, ss.1137-1140, 2017 (SCI-Expanded, Scopus) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 30 Sayı: 10
  • Basım Tarihi: 2017
  • Doi Numarası: 10.1515/jpem-2017-0064
  • Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1137-1140
  • Anahtar Kelimeler: adrenal deficieny, monogenic obesity, type 1 diabetes, NULL MUTATION, HUMANS
  • Ankara Üniversitesi Adresli: Hayır

Özet

Background: Proopiomelanocortin (POMC) protein, encoded by the POMC gene, is the precursor of adrenocorticotropic hormone (ACTH) that is released from the anterior pituitary gland. Homozygous mutations in the POMC gene is associated with hyperphagia, severe and earlyonset obesity, adrenal insufficiency, hypopigmentation of the skin and red hair.